ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.45G>A (p.Trp15Ter)

gnomAD frequency: 0.00001  dbSNP: rs1831179586
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001993301 SCV002230691 pathogenic Fanconi anemia 2021-11-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp15*) in the FANCC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 32427313). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV004043989 SCV005032526 pathogenic Hereditary cancer-predisposing syndrome 2023-11-22 criteria provided, single submitter clinical testing The p.W15* pathogenic mutation (also known as c.45G>A), located in coding exon 1 of the FANCC gene, results from a G to A substitution at nucleotide position 45. This changes the amino acid from a tryptophan to a stop codon within coding exon 1. This alteration was observed in 2/5054 African American women with breast cancer (Palmer JR et al. J Natl Cancer Inst, 2020 Dec;112:1213-1221). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Baylor Genetics RCV004571701 SCV005057604 likely pathogenic Fanconi anemia complementation group C 2024-03-14 criteria provided, single submitter clinical testing

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